DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs878853250 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C0151889
Disease:	Hyperreflexia

Hyperreflexia

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C0240479
Disease:	Neck muscle weakness

Neck muscle weakness

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C4023342
Disease:	Gastrostomy tube feeding in infancy

Gastrostomy tube feeding in infancy

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C4082299
Disease:	Bulbar palsy

Bulbar palsy

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C1849367
Disease:	Nasal bridge wide

Nasal bridge wide

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C1867873
Disease:	Failure to thrive in infancy

Failure to thrive in infancy

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs878853250

rs878853250

SCN8A

0.752

0.360

12

51699663

stop gained

T/A;C

snv

CUI:	C4692845
Disease:	BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO

BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO

0.700